Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

BACKGROUND: The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to evaluate the spectrum of IPDs in individuals with clinical suspicion of these disorders, and to provide a diagnostic tool to centers not having access to specific platelets studies, we established the project "Functional and Molecular Characterization of Patients with Inherited Platelet Disorders" under the scientific sponsorship of the Spanish Society of Thrombosis and Haemostasis. PATIENTS/METHODS: Subjects were patients from a prospective cohort of individuals referred for clinical suspicion of IPDs as well as healthy controls. Functional studies included light transmission aggregation, flow cytometry, and when indicated, Western-blot analysis of platelet glycoproteins, and clot retraction analysis. Genetic analysis was mainly performed by sequencing of coding regions and proximal regulatory regions of the genes of interest. RESULTS: Of the 70 cases referred for study, we functionally and molecularly characterized 12 patients with Glanzmann Thrombasthenia, 8 patients with Bernard Soulier syndrome, and 8 with other forms of IPDs. Twelve novel mutations were identified among these patients. The systematic study of patients revealed that almost one-third of patients had been previously misdiagnosed. CONCLUSIONS: Our study provides a global picture of the current limitations and access to the diagnosis of IPDs, identifies and confirms new genetic variants that cause these disorders, and emphasizes the need of creating reference centers that can help health care providers in the recognition of these defects

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

Meeting abstrac

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field

A next-generation liquid xenon observatory for dark matter and neutrino physics

The nature of dark matter and properties of neutrinos are among the most pressing issues in contemporary particle physics. The dual-phase xenon time-projection chamber is the leading technology to cover the available parameter space for weakly interacting massive particles, while featuring extensive sensitivity to many alternative dark matter candidates. These detectors can also study neutrinos through neutrinoless double-beta decay and through a variety of astrophysical sources. A next-generation xenon-based detector will therefore be a true multi-purpose observatory to significantly advance particle physics, nuclear physics, astrophysics, solar physics, and cosmology. This review article presents the science cases for such a detector

Millimeter-Wave Channel Measurement Based Ray-Tracing Calibration and Analysis in Metro

In order to meet the increasing data rate demands of the onboard passengers in the metro, millimeter-wave (mmWave) wideband communication is considered as a potential candidate. In this paper, a channel measurement based ray-tracing (RT) calibration approach is employed to calibrate key parameters and reveal the reasons of the multi-path components in an inside-metro environment. The measurement was conducted in Madrid Metro with frequency ranging from 26.5 GHz to 40 GHz. By minimizing the error between the RT simulation and the measurement, the environment model and electromagnetic (EM) parameters of the related objects are calibrated. It is found that the poles and the train body can generate strong reflection and scattering components. The provided EM parameter set and the calibrated environment model will lay fundamentals to further characterize the mmWave channel and guide design of communication network inside Metro

Towards new privacy regulations in europe: Users' privacy perception in recommender systems

Despite the fact that recommender systems are becoming increasingly popular in every aspect of the web, users might hesitate to use these personalization-based services in return of their personal information if they believe their privacy is compromised in any possible way. While new privacy regulations in Europe bring more transparency and control over data collection to users, this study aims to provide a better understanding of the users’ perception over privacy in recommender systems domain over several aspects such as behavioral preferences, privacy preferences, trust, data ownership and control over own data through an on-line survey. The results indicate that the majority of the respondents consider that recommender systems violate user privacy in different ways. Further, the results indicate that increased control and perceived sense of ownership over one’s own data may help to decrease the negative attitudes towards recommender systems and providers and to re-instate and increase users’ trust. However, the findings also indicate that users’ trust may be hard to re-establish in cases where the thought of “apparently”/in theory go hand in hand with more transparency and user control will in reality/in practice not lead to drastic changes

Generation of behavior-driven development C++ tests from abstract state machine scenarios

In this paper, we present the AsmetaVBDD tool that automatically translates the scenarios written in the AValLa language (used by the asmeta validator (AsmetaV)) into Behavior-Driven Development scenarios for C++